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Aliases for NKAIN3 Gene

Aliases for NKAIN3 Gene

  • Na+/K+ Transporting ATPase Interacting 3 2 3 5
  • Na(+)/K(+)-Transporting ATPase Subunit Beta-1-Interacting Protein 3 3 4
  • Family With Sequence Similarity 77, Member D 2 3
  • FAM77D 3 4
  • Protein FAM77D 4

External Ids for NKAIN3 Gene

Previous HGNC Symbols for NKAIN3 Gene

  • FAM77D

Previous GeneCards Identifiers for NKAIN3 Gene

  • GC08P063326
  • GC08P063161
  • GC08P058649

Summaries for NKAIN3 Gene

Entrez Gene Summary for NKAIN3 Gene

  • NKAIN3 is a member of a family of mammalian proteins (see NKAIN1; MIM 612871) with similarity to Drosophila Nkain (Gorokhova et al., 2007 [PubMed 17606467]).[supplied by OMIM, Jun 2009]

GeneCards Summary for NKAIN3 Gene

NKAIN3 (Na+/K+ Transporting ATPase Interacting 3) is a Protein Coding gene. Diseases associated with NKAIN3 include dravet syndrome. An important paralog of this gene is NKAIN4.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NKAIN3 Gene

Genomics for NKAIN3 Gene

Regulatory Elements for NKAIN3 Gene

Promoters for NKAIN3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NKAIN3 on UCSC Golden Path with GeneCards custom track

Genomic Location for NKAIN3 Gene

Chromosome:
8
Start:
62,248,310 bp from pter
End:
62,999,652 bp from pter
Size:
751,343 bases
Orientation:
Plus strand

Genomic View for NKAIN3 Gene

Genes around NKAIN3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NKAIN3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NKAIN3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NKAIN3 Gene

Proteins for NKAIN3 Gene

  • Protein details for NKAIN3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N8D7-NKAI3_HUMAN
    Recommended name:
    Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 3
    Protein Accession:
    Q8N8D7

    Protein attributes for NKAIN3 Gene

    Size:
    197 amino acids
    Molecular mass:
    22620 Da
    Quaternary structure:
    • Interacts with ATP1B1.

neXtProt entry for NKAIN3 Gene

Proteomics data for NKAIN3 Gene at MOPED

Post-translational modifications for NKAIN3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NKAIN3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NKAIN3 Gene

Domains & Families for NKAIN3 Gene

Gene Families for NKAIN3 Gene

Protein Domains for NKAIN3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NKAIN3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N8D7

UniProtKB/Swiss-Prot:

NKAI3_HUMAN :
  • Belongs to the NKAIN family.
Family:
  • Belongs to the NKAIN family.
genes like me logo Genes that share domains with NKAIN3: view

Function for NKAIN3 Gene

Phenotypes for NKAIN3 Gene

genes like me logo Genes that share phenotypes with NKAIN3: view

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NKAIN3 Gene

Localization for NKAIN3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NKAIN3 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NKAIN3 Gene COMPARTMENTS Subcellular localization image for NKAIN3 gene
Compartment Confidence
plasma membrane 5

No data available for Gene Ontology (GO) - Cellular Components for NKAIN3 Gene

Pathways & Interactions for NKAIN3 Gene

SuperPathways for NKAIN3 Gene

No Data Available

Interacting Proteins for NKAIN3 Gene

Gene Ontology (GO) - Biological Process for NKAIN3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for NKAIN3 Gene

Drugs & Compounds for NKAIN3 Gene

No Compound Related Data Available

Transcripts for NKAIN3 Gene

mRNA/cDNA for NKAIN3 Gene

(5) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NKAIN3 Gene

Na+/K+ transporting ATPase interacting 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NKAIN3 Gene

No ASD Table

Relevant External Links for NKAIN3 Gene

GeneLoc Exon Structure for
NKAIN3
ECgene alternative splicing isoforms for
NKAIN3

Expression for NKAIN3 Gene

mRNA expression in normal human tissues for NKAIN3 Gene

mRNA differential expression in normal tissues according to GTEx for NKAIN3 Gene

This gene is overexpressed in Brain - Amygdala (x5.8), Brain - Nucleus accumbens (basal ganglia) (x5.6), Brain - Caudate (basal ganglia) (x5.6), and Brain - Putamen (basal ganglia) (x5.1).

Protein differential expression in normal tissues from HIPED for NKAIN3 Gene

This gene is overexpressed in Fetal Brain (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NKAIN3 Gene



SOURCE GeneReport for Unigene cluster for NKAIN3 Gene Hs.654662

genes like me logo Genes that share expression patterns with NKAIN3: view

Protein tissue co-expression partners for NKAIN3 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for NKAIN3 Gene

Orthologs for NKAIN3 Gene

This gene was present in the common ancestor of animals.

Orthologs for NKAIN3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NKAIN3 35
  • 90.5 (n)
  • 96.09 (a)
dog
(Canis familiaris)
Mammalia NKAIN3 35
  • 91.25 (n)
  • 96.65 (a)
mouse
(Mus musculus)
Mammalia Nkain3 35
  • 87.76 (n)
  • 97.47 (a)
Nkain3 16
Nkain3 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NKAIN3 35
  • 99.83 (n)
  • 100 (a)
NKAIN3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nkain3 35
  • 89.27 (n)
  • 97.74 (a)
oppossum
(Monodelphis domestica)
Mammalia NKAIN3 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NKAIN3 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves NKAIN3 35
  • 82.31 (n)
  • 86.59 (a)
NKAIN3 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NKAIN3 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nkain3 35
  • 74.81 (n)
  • 78.33 (a)
zebrafish
(Danio rerio)
Actinopterygii zgc:100920 36
  • 56 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007012 35
  • 51.53 (n)
  • 42.94 (a)
fruit fly
(Drosophila melanogaster)
Insecta NKAIN 35
  • 52.97 (n)
  • 43.24 (a)
NKAIN 36
  • 12 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3479 36
  • 34 (a)
OneToMany
Species with no ortholog for NKAIN3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NKAIN3 Gene

ENSEMBL:
Gene Tree for NKAIN3 (if available)
TreeFam:
Gene Tree for NKAIN3 (if available)

Paralogs for NKAIN3 Gene

Paralogs for NKAIN3 Gene

(4) SIMAP similar genes for NKAIN3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with NKAIN3: view

Variants for NKAIN3 Gene

Sequence variations from dbSNP and Humsavar for NKAIN3 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs4739003 - 62,747,076(+) GCATC(A/G)TTGAC nc-transcript-variant, reference, missense
rs931129 -- 62,855,255(+) AGGCC(A/T)GCCAG intron-variant
rs931130 -- 62,704,537(+) CTCAT(A/G)TGTAA intron-variant
rs931131 -- 62,704,554(+) ggata(A/G)gaatt intron-variant
rs936613 -- 62,618,321(-) CATCC(C/T)GGAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NKAIN3 Gene

Variant ID Type Subtype PubMed ID
dgv2242e1 CNV Complex 17122850
esv2737089 CNV Deletion 23290073
nsv818632 CNV Loss 17921354
esv2443694 CNV Loss 19546169
nsv6225 CNV Loss 18451855
esv2484852 CNV Deletion 19546169
dgv1289e199 CNV Deletion 23128226
nsv8356 CNV Loss 18304495
esv2159853 CNV Deletion 18987734
nsv515094 CNV Loss 21397061
esv29132 CNV Loss 19812545
nsv499495 CNV Loss 21111241
dgv891n27 CNV Loss 19166990
nsv517136 CNV Loss 19592680
nsv818634 CNV Loss 17921354
esv2421340 CNV Deletion 20811451
nsv818635 CNV Loss 17921354
nsv442520 CNV CNV 18776908
essv101797 CNV Loss 18971310
nsv890956 CNV Loss 21882294
esv32676 CNV Loss 17666407
esv2737090 CNV Deletion 23290073
nsv890957 CNV Loss 21882294
nsv890958 CNV Loss 21882294
esv21736 CNV Gain 19812545
esv2676648 CNV Deletion 23128226
nsv831339 CNV Gain 17160897
esv275026 CNV Loss 21479260
esv270215 CNV Insertion 20981092
nsv6226 CNV Insertion 18451855
esv27863 CNV Loss 19812545
nsv890959 CNV Loss 21882294
esv1466080 CNV Insertion 17803354
esv2737091 CNV Deletion 23290073
esv2150762 CNV Deletion 18987734
esv2668890 CNV Deletion 23128226
nsv396044 CNV Loss 16902084
esv2737092 CNV Deletion 23290073
esv2737093 CNV Deletion 23290073
nsv831340 CNV Loss 17160897
nsv890960 CNV Loss 21882294
nsv831341 CNV Loss 17160897
esv2422825 CNV Insertion 19546169
esv1237672 CNV Insertion 17803354
nsv398473 CNV Insertion 16902084
nsv521804 CNV Loss 19592680
nsv890961 CNV Loss 21882294
nsv890962 CNV Loss 21882294
nsv398476 CNV Loss 16902084
nsv398074 CNV Insertion 16902084
esv23915 CNV Loss 19812545
nsv890963 CNV Gain 21882294
esv2662945 CNV Deletion 23128226
nsv515602 CNV Loss 19592680
nsv890964 CNV Loss 21882294
nsv6227 CNV Loss 18451855

Variation tolerance for NKAIN3 Gene

Residual Variation Intolerance Score: 72.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.58; 82.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NKAIN3 Gene

HapMap Linkage Disequilibrium report
NKAIN3
Human Gene Mutation Database (HGMD)
NKAIN3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NKAIN3 Gene

Disorders for NKAIN3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NKAIN3 Gene - From: GeneCards

Disorder Aliases PubMed IDs
dravet syndrome
  • dravet syndrome, modifier of
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NKAIN3

Genetic Association Database (GAD)
NKAIN3
Human Genome Epidemiology (HuGE) Navigator
NKAIN3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NKAIN3
genes like me logo Genes that share disorders with NKAIN3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NKAIN3 Gene

Publications for NKAIN3 Gene

  1. Genome-wide association study identifies three common variants associated with serologic response to vitamin E supplementation in men. (PMID: 22437554) Major J.M. … Albanes D. (J. Nutr. 2012) 3 48 67
  2. A novel family of transmembrane proteins interacting with beta subunits of the Na,K-ATPase. (PMID: 17606467) Gorokhova S. … Heintz N. (Hum. Mol. Genet. 2007) 2 3
  3. GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. (PMID: 24623842) Carvill G.L. … Mefford H.C. (Neurology 2014) 3
  4. Integrated genome-wide association, coexpression network, and expression single nucleotide polymorphism analysis identifies novel pathway in allergic rhinitis. (PMID: 25085501) Bunyavanich S. … Weiss S.T. (BMC Med Genomics 2014) 3
  5. Genetic variants associated with disordered eating. (PMID: 23568457) Wade T.D. … Martin N.G. (Int J Eat Disord 2013) 3

Products for NKAIN3 Gene

Sources for NKAIN3 Gene

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